Canonical Allele Identifier: CA1752432090

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949036G= , CM000669.2:g.150949036G=	GRCh38
NC_000007.13:g.150646124G= , CM000669.1:g.150646124G=	GRCh37
NC_000007.12:g.150277057G=	NCBI36
NG_008916.1:g.33891C= , LRG_288:g.33891C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3245C=
ENST00000262186.10:c.2412C= MANE Select	ENSP00000262186.5:p.Ile804=
ENST00000330883.9:c.1392C=	ENSP00000328531.4:p.Ile464=
ENST00000262186.9:c.2412C=	ENSP00000262186.5:p.Ile804=
ENST00000330883.8:c.1392C=	ENSP00000328531.4:p.Ile464=
NM_000238.3:c.2412C= , LRG_288t1:c.2412C=	NP_000229.1:p.Ile804=
NM_172057.2:c.1392C= , LRG_288t3:c.1392C=	NP_742054.1:p.Ile464=
XM_011516185.1:c.2112C=	XP_011514487.1:p.Ile704=
XM_011516186.1:c.2412C=	XP_011514488.1:p.Ile804=
XM_011516185.2:c.2112C=	XP_011514487.1:p.Ile704=
XM_011516186.3:c.2412C=	XP_011514488.1:p.Ile804=
XM_017012195.1:c.2262C=	XP_016867684.1:p.Ile754=
XM_017012196.1:c.2235C=	XP_016867685.1:p.Ile745=
NM_000238.4:c.2412C= MANE Select	NP_000229.1:p.Ile804=
NM_172057.3:c.1392C=	NP_742054.1:p.Ile464=